ClinVar Miner

List of variants reported as pathogenic for X-linked disease by OMIM

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1188
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000032.4(ALAS2):c.-258C>G rs140772352 0.00656
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_004840.3(ARHGEF6):c.166-11T>C rs140322310 0.00185
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys) rs62638625 0.00037
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00022
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro) rs191205969 0.00016
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_001289.6(CLIC2):c.303C>G (p.His101Gln) rs398122917 0.00012
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter) rs62637037 0.00010
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) rs62638197 0.00009
NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter) rs397509378 0.00006
NM_000132.4(F8):c.121G>T (p.Gly41Cys) rs137852379 0.00005
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter) rs62638624 0.00005
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser) rs122460151 0.00004
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr) rs62638208 0.00004
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304 0.00003
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser) rs62638202 0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00003
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser) rs779748859 0.00003
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter) rs397509379 0.00003
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.2215G>A (p.Glu739Lys) rs28937285 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.601+1632G>A rs387906429 0.00002
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys) rs137852467 0.00002
NM_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178 0.00002
NM_000330.4(RS1):c.325G>C (p.Gly109Arg) rs104894934 0.00002
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) rs387906862 0.00002
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys) rs1064795656 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_012216.4(MID2):c.1040G>A (p.Arg347Gln) rs587777605 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr) rs376610215 0.00002
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser) rs28935474 0.00001
NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp) rs28935496 0.00001
NM_000054.7(AVPR2):c.410G>A (p.Arg137His) rs104894756 0.00001
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1648C>T (p.Arg550Cys) rs137852417 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe) rs28935203 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.5398C>T (p.Arg1800Cys) rs137852443 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.6955C>T (p.Pro2319Ser) rs137852374 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000132.4(F8):c.940A>G (p.Thr314Ala) rs137852406 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) rs104894810 0.00001
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) rs104894811 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000330.4(RS1):c.221G>T (p.Gly74Val) rs104894933 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000390.4(CHM):c.1446del (p.Gly483fs) rs1244003380 0.00001
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 0.00001
NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter) rs387907138 0.00001
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu) rs869320682 0.00001
NM_001167.4(XIAP):c.608G>A (p.Cys203Tyr) rs387907301 0.00001
NM_001252024.2(TRPM1):c.1898C>A (p.Pro633His) rs267607139 0.00001
NM_001252024.2(TRPM1):c.2087+2T>C rs766862238 0.00001
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) rs137852525 0.00001
NM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg) rs866919041 0.00001
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_002063.4(GLRA2):c.407A>G (p.Asn136Ser) rs1276905604 0.00001
NM_002063.4(GLRA2):c.754C>T (p.Arg252Cys) rs748764171 0.00001
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729 0.00001
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp) rs199422238 0.00001
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln) rs137853265 0.00001
NM_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter) rs1410075831 0.00001
NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln) rs941190653 0.00001
NM_032539.5(SLITRK2):c.1531G>A (p.Val511Met) rs1357978246 0.00001
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala) rs782072593 0.00001
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479 0.00001
NM_201599.3(ZMYM3):c.1321C>T (p.Arg441Trp) rs587777358 0.00001
ARX, ARG2085HIS
CD40LG, 10-BP DEL
CD40LG, THR211ASP
COL4A5, 10-15-KB INS, 40-KB DEL
EDA, 1-BP DEL, EX6
EDA, 36-BP DEL, EX5
Exon 5 deletion, about 2 kb
F8, 23-BP DEL, FS
F8, 89-BP DEL, FS
F8, EX11-18DEL
F8, EX15-22DEL
F8, EX15DEL
F8, EX23-25DEL
F8, EX23-26DEL
F8, EX26DEL
F8, EX5DEL
F8, IVS22 INV
GRCh38/hg38 Xq28(chrX:153905292-154361918)
L1CAM, 1.3-KB DUP
Multiple alleles
NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
NC_000023.10:g.(?_128946967)_(128948896_?)del
NC_000023.10:g.12515801_12581900del
NC_000023.10:g.14693216_14836199del
NC_000023.10:g.24020361_24042839del
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NC_000023.11:g.(154805077_154806947)_(155030999_?)del
NC_000023.11:g.(154863228_154896077)_(155022724_?)del
NC_000023.11:g.(154930804_?)_(?_154933516)del
NC_000023.11:g.(154959165_?)_(?_154963500)del
NC_000023.11:g.(154969553_154984686)_(155022724_?)del
NC_000023.11:g.(154974508_154984686)_(154984804_154986431)del
NC_000023.11:g.(154986438_154987103)_(154997096_154997956)del
NC_000023.11:g.(41853228_41922929)(41923555_?)del
NC_000023.11:g.(41853228_41922929)_(41923555_?)del
NC_000023.11:g.(74305035_74421492)_(74422068_74520989)del
NC_000023.11:g.(74745698_74924882)_(74925453_?)dup
NC_000023.11:g.(?_123184278)_(123490915_?)del
NC_000023.11:g.(?_124346562)_(124346780_124365760)del
NC_000023.11:g.(?_154835791)_(154837753_154860431)del
NC_000023.11:g.(?_154835791)_(154837753_?)del
NC_000023.11:g.(?_154835791_(154905024_154906419)del
NC_000023.11:g.(?_154931495)_(154989517_154990580)del
NC_000023.11:g.(?_155022409)_(155022724_?)del
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
NC_000023.11:g.53254331_53296102dup
NC_000023.9:g.9688757-?_9693917+?del
NG_007264.1:g.(31343_33421)_(33522_36040)del
NG_007280.1:g.5145_5146insAluAluYb8inv
NG_007488.1:g.67535_67536ins[N[2800];67522_67535]
NG_008054.1:g.(35701_?)_(?_50820)del
NG_008197.2:g.(218402_271087)_(271804_315503)dup
NG_008281.1:g.(?_4983)_(8028_10643)del
NG_008292.1:g.700375-?_1335033+?del
NG_008292.2:g.(?_707879)_(1040749_?)del
NG_008960.1:g.224486-?_245539+?del
NG_008960.1:g.337629_355297del
NG_009095.2:g.(16929_16947)_(21383_21401)del
NG_009814.1:g.(?_4989)_(10173_?)del
NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT
NG_011403.2:(80027_96047)_(99154_121150)del
NG_011403.2:g.(123429_123635)_(125674_126281)del
NG_011403.2:g.(123819_125556)_(127859_131491)del
NG_011403.2:g.(127859_131491)_(131648_164496)del
NG_011403.2:g.(131648_164496)_(167293_189971)del
NG_011403.2:g.(164642_165857)_(167293_189971)del
NG_011403.2:g.(28246_30628)_(30752_34575)del
NG_011403.2:g.(28246_30628)_(80027_96047)del
NG_011403.2:g.(30752_34575)_(167293_189971)del
NG_011403.2:g.(30752_34575)_(66650_70552)del
NG_011403.2:g.(34789_40418)_(43038_58171)del
NG_011403.2:g.(43038_58171)_(61755_66555)del
NG_011403.2:g.(43038_58171)_(99154_121150)del
NG_011403.2:g.(5000_5315)_(40488_42920)del
NG_011403.2:g.(5315_28123)_(30752_30752)del
NG_011403.2:g.(5315_28123)_(34789_40418)del
NG_011403.2:g.(80027_96047)_(127859_131491)del
NG_011403.2:g.(80027_96047)_(131648_164496)del
NG_011403.2:g.(80027_96047)_(99154_121150)del
NG_011403.2:g.(99154_121150)_(123819_125556)del
NG_011403.2:g.97660_97662delinsAluYb8
NG_011641.2:g.(108110_108560)_(109645_112963)del
NG_011977.2:g.(239831_242576)_(252772_257824)del
NG_011977.2:g.(246966_251107)_?del
NG_011977.2:g.?_(146097_162513)del
NG_016313.2:g.(5527_156380)_(156514_166289)del
NG_016453.2:g.66830_103274del
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) rs137852300
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) rs137852307
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) rs137852305
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) rs137852311
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) rs137852299
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) rs137852309
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter) rs397514730
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs) rs879255567
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) rs387906473
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) rs137852306
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs) rs387906472
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) rs137852308
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) rs137852308
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) rs137852301
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) rs28935484
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His) rs137852310
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) rs137852302
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter) rs128624222
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1552del (p.Arg518fs) rs387906495
NM_000033.4(ABCD1):c.1634+1G>A rs1569541096
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs) rs2148398995
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) rs1569540743
NM_000047.3(ARSL):c.1475G>A (p.Cys492Tyr) rs122460155
NM_000047.3(ARSL):c.332G>C (p.Arg111Pro) rs122460153
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000047.3(ARSL):c.410G>T (p.Gly137Val) rs80338711
NM_000047.3(ARSL):c.733G>C (p.Gly245Arg) rs122460154
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000054.7(AVPR2):c.1009C>T (p.Arg337Ter) rs104894753
NM_000054.7(AVPR2):c.102del (p.Leu35fs) rs1569545523
NM_000054.7(AVPR2):c.137T>A (p.Ile46Lys) rs104894759
NM_000054.7(AVPR2):c.213G>A (p.Trp71Ter) rs104894751
NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn) rs104894754
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.7(AVPR2):c.313T>G (p.Phe105Val) rs104894758
NM_000054.7(AVPR2):c.388A>T (p.Ile130Phe) rs796052096
NM_000054.7(AVPR2):c.395C>A (p.Ala132Asp) rs104894747
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys) rs104894757
NM_000054.7(AVPR2):c.553G>T (p.Gly185Cys) rs104894748
NM_000054.7(AVPR2):c.602G>A (p.Gly201Asp) rs104894755
NM_000054.7(AVPR2):c.607C>T (p.Arg203Cys) rs104894750
NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys) rs104894749
NM_000054.7(AVPR2):c.682_683insC (p.Ile228fs) rs2148514762
NM_000054.7(AVPR2):c.738del (p.Arg247fs) rs781942628
NM_000054.7(AVPR2):c.738dup (p.Arg247fs) rs781942628
NM_000054.7(AVPR2):c.839A>G (p.Tyr280Cys) rs104894752
NM_000074.2(CD40LG):c.[384T>A;386A>G]
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys) rs104894774
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.3(CD40LG):c.189dup (p.Val64fs) rs193922134
NM_000074.3(CD40LG):c.349_409+2del rs2148552900
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu) rs104894778
NM_000074.3(CD40LG):c.412_419del
NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly) rs104894777
NM_000074.3(CD40LG):c.419G>A (p.Trp140Ter) rs104894775
NM_000074.3(CD40LG):c.464T>C (p.Leu155Pro) rs104894769
NM_000074.3(CD40LG):c.680G>T (p.Gly227Val) rs104894768
NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro) rs104894771
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.139_140dup (p.Leu48fs) rs2148128153
NM_000117.3(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.266-3A>G rs2148128459
NM_000117.3(EMD):c.506_507del (p.Pro169fs) rs1422834817
NM_000117.3(EMD):c.547C>A (p.Pro183Thr) rs104894806
NM_000117.3(EMD):c.548C>A (p.Pro183His) rs104894805
NM_000117.3(EMD):c.615del (p.Ile206fs) rs2148128932
NM_000117.3:c.55_83del
NM_000132.3(F8):c.2114-?_5219+?del (p.?)
NM_000132.4(F8):c.1026T>A (p.Tyr342Ter) rs137852408
NM_000132.4(F8):c.1033G>T (p.Val345Leu) rs137852371
NM_000132.4(F8):c.1043G>C (p.Cys348Ser) rs137852410
NM_000132.4(F8):c.104A>G (p.Tyr35Cys) rs137852476
NM_000132.4(F8):c.1077_1080del (p.Asn359fs) rs387906431
NM_000132.4(F8):c.1078_1079del (p.Glu360fs) rs387906440
NM_000132.4(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.4(F8):c.1174T>C (p.Ser392Pro) rs28933669
NM_000132.4(F8):c.1175C>A (p.Ser392Ter) rs28933668
NM_000132.4(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.4(F8):c.1197_1198del (p.Lys399fs) rs387906441
NM_000132.4(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.4(F8):c.1226A>G (p.Glu409Gly) rs28933671
NM_000132.4(F8):c.1293G>T (p.Leu431Phe) rs28933672
NM_000132.4(F8):c.1293del (p.Asn432fs) rs387906442
NM_000132.4(F8):c.1331A>G (p.Lys444Arg) rs28937272
NM_000132.4(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.4(F8):c.1348T>A (p.Tyr450Asn) rs111033616
NM_000132.4(F8):c.1417T>C (p.Tyr473His) rs387906443
NM_000132.4(F8):c.1418A>G (p.Tyr473Cys) rs387906444
NM_000132.4(F8):c.1481T>C (p.Ile494Thr) rs137852413
NM_000132.4(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.4(F8):c.1506_1516del (p.Arg503fs) rs2124099163
NM_000132.4(F8):c.1538-1G>T rs1414679955
NM_000132.4(F8):c.1596dup (p.Thr533fs) rs387906445
NM_000132.4(F8):c.1630G>A (p.Asp544Asn) rs137852415
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.4(F8):c.1682A>G (p.Asp561Gly) rs137852420
NM_000132.4(F8):c.170_179dup (p.Thr61fs) rs2124149047
NM_000132.4(F8):c.1726G>T (p.Glu576Ter) rs137852421
NM_000132.4(F8):c.1729T>C (p.Ser577Pro) rs387906446
NM_000132.4(F8):c.1730C>T (p.Ser577Phe) rs28937282
NM_000132.4(F8):c.1750C>A (p.Gln584Lys) rs137852422
NM_000132.4(F8):c.1750del (p.Gln584fs) rs2124094327
NM_000132.4(F8):c.1754T>C (p.Ile585Thr) rs137852376
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1808G>T (p.Ser603Ile) rs137852425
NM_000132.4(F8):c.1812G>C (p.Trp604Cys) rs137852426
NM_000132.4(F8):c.1814A>C (p.Tyr605Ser) rs137852427
NM_000132.4(F8):c.1892A>G (p.Asn631Ser) rs137852429
NM_000132.4(F8):c.1903+5G>A rs2124090120
NM_000132.4(F8):c.1904-736_2113+2563dup
NM_000132.4(F8):c.1957G>A (p.Val653Met) rs137852431
NM_000132.4(F8):c.1958T>C (p.Val653Ala) rs137852430
NM_000132.4(F8):c.1965C>G (p.Tyr655Ter) rs137852432
NM_000132.4(F8):c.1988C>T (p.Ala663Val) rs137852433
NM_000132.4(F8):c.199_200del (p.Lys67fs) rs387906433
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del) rs1476178386
NM_000132.4(F8):c.2029T>C (p.Phe677Leu) rs137852434
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2113+461_2113+473del rs781928603
NM_000132.4(F8):c.2383A>T (p.Arg795Ter) rs2228152
NM_000132.4(F8):c.266G>A (p.Gly89Asp) rs137852380
NM_000132.4(F8):c.275G>T (p.Gly92Val) rs137852381
NM_000132.4(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.4(F8):c.2962_2963del (p.Ser988fs) rs387906448
NM_000132.4(F8):c.296T>A (p.Val99Asp) rs137852382
NM_000132.4(F8):c.311T>A (p.Val104Asp) rs137852383
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.4(F8):c.328A>G (p.Met110Val) rs137852385
NM_000132.4(F8):c.350T>G (p.Leu117Arg) rs137852386
NM_000132.4(F8):c.3548_3549del (p.Lys1183fs) rs387906449
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.364_365del (p.Val122fs) rs387906435
NM_000132.4(F8):c.3692del (p.Pro1231fs) rs387906451
NM_000132.4(F8):c.388G>C (p.Gly130Arg) rs137852387
NM_000132.4(F8):c.398A>G (p.Tyr133Cys) rs137852389
NM_000132.4(F8):c.4029_4030dup (p.Thr1344fs) rs2124049493
NM_000132.4(F8):c.404A>G (p.Asp135Gly) rs137852390
NM_000132.4(F8):c.410C>T (p.Thr137Ile) rs137852391
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.4242dup (p.Phe1415fs) rs1360639935
NM_000132.4(F8):c.4296_4300del (p.His1434fs) rs387906453
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs) rs387906454
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.4662_4663del (p.Trp1554_Asn1555delinsTer) rs2124048199
NM_000132.4(F8):c.4825dup (p.Thr1609fs) rs397514036
NM_000132.4(F8):c.4858del (p.Ser1619_Leu1620insTer) rs387906456
NM_000132.4(F8):c.4900G>T (p.Glu1634Ter) rs137852438
NM_000132.4(F8):c.491G>T (p.Gly164Val) rs137852392
NM_000132.4(F8):c.5113C>T (p.Gln1705Ter) rs137852361
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.4(F8):c.5167G>A (p.Glu1723Lys) rs137852373
NM_000132.4(F8):c.5183A>G (p.Tyr1728Cys) rs137852362
NM_000132.4(F8):c.5220-2A>G rs2073039685
NM_000132.4(F8):c.5305G>A (p.Gly1769Arg) rs137852440
NM_000132.4(F8):c.5323T>G (p.Leu1775Val) rs28937287
NM_000132.4(F8):c.5325G>C (p.Leu1775Phe) rs137852441
NM_000132.4(F8):c.5336G>A (p.Gly1779Glu) rs28937289
NM_000132.4(F8):c.5372T>C (p.Met1791Thr) rs137852375
NM_000132.4(F8):c.5374-224_5453delinsT
NM_000132.4(F8):c.5398C>G (p.Arg1800Gly) rs137852443
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5408C>A (p.Ser1803Tyr) rs137852444
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5443C>T (p.Gln1815Ter) rs137852446
NM_000132.4(F8):c.5479A>T (p.Lys1827Ter) rs387906457
NM_000132.4(F8):c.5526G>A (p.Met1842Ile) rs28933674
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.4(F8):c.5533A>C (p.Thr1845Pro) rs28933676
NM_000132.4(F8):c.554A>C (p.Lys185Thr) rs137852395
NM_000132.4(F8):c.5558C>T (p.Ala1853Val) rs28933677
NM_000132.4(F8):c.5586G>A (p.Leu1862=) rs2123997676
NM_000132.4(F8):c.5593G>A (p.Asp1865Asn) rs28933678
NM_000132.4(F8):c.5593G>T (p.Asp1865Tyr) rs28933678
NM_000132.4(F8):c.5600A>G (p.His1867Arg) rs28933679
NM_000132.4(F8):c.5618C>G (p.Pro1873Arg) rs28933680
NM_000132.4(F8):c.5622dup (p.Leu1875fs) rs387906458
NM_000132.4(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.4(F8):c.5677C>T (p.Gln1893Ter) rs137852448
NM_000132.4(F8):c.5710G>A (p.Glu1904Lys) rs28933681
NM_000132.4(F8):c.5719dup (p.Ser1907fs) rs387906459
NM_000132.4(F8):c.5821A>G (p.Asn1941Asp) rs137852369
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.4(F8):c.5878C>T (p.Arg1960Ter) rs137852363
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.5879G>T (p.Arg1960Leu) rs28937294
NM_000132.4(F8):c.5882G>A (p.Trp1961Ter) rs137852449
NM_000132.4(F8):c.5900G>A (p.Gly1967Asp) rs111033615
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.5936G>T (p.Gly1979Val) rs137852450
NM_000132.4(F8):c.5938C>T (p.His1980Tyr) rs137852451
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.4(F8):c.5961del (p.Glu1988fs) rs387906460
NM_000132.4(F8):c.6016G>T (p.Glu2006Ter) rs267606791
NM_000132.4(F8):c.602-2A>G rs2124134457
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6049del (p.Val2017fs) rs387906461
NM_000132.4(F8):c.6113A>G (p.Asn2038Ser) rs137852454
NM_000132.4(F8):c.6193T>C (p.Trp2065Arg) rs137852455
NM_000132.4(F8):c.6263C>T (p.Ser2088Phe) rs137852456
NM_000132.4(F8):c.6278A>G (p.Asp2093Gly) rs137852457
NM_000132.4(F8):c.6360T>G (p.Phe2120Leu) rs137852458
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.4(F8):c.6404G>C (p.Arg2135Pro) rs137852366
NM_000132.4(F8):c.6412_6413del (p.Ser2138fs) rs387906462
NM_000132.4(F8):c.6413C>A (p.Ser2138Tyr) rs137852460
NM_000132.4(F8):c.6464_6465del (p.Lys2155fs) rs387906463
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter) rs137852357
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6515C>A (p.Pro2172Gln) rs137852462
NM_000132.4(F8):c.6518C>T (p.Thr2173Ile) rs137852463
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.4(F8):c.6554T>C (p.Leu2185Ser) rs137852365
NM_000132.4(F8):c.6631G>C (p.Ala2211Pro) rs137852468
NM_000132.4(F8):c.665A>T (p.Asp222Val) rs137852396
NM_000132.4(F8):c.6670_6672del (p.Pro2224del) rs1229477261
NM_000132.4(F8):c.6682C>G (p.Arg2228Gly) rs137852355
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter) rs137852355
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.4(F8):c.6683G>T (p.Arg2228Leu) rs137852358
NM_000132.4(F8):c.6699del (p.Arg2234fs) rs387906464
NM_000132.4(F8):c.670G>T (p.Gly224Trp) rs137852397
NM_000132.4(F8):c.671-2A>G rs2124131475
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.4(F8):c.6794_6795del (p.Gln2265fs) rs387906465
NM_000132.4(F8):c.6865C>T (p.Gln2289Ter) rs137852471
NM_000132.4(F8):c.688_689del (p.Glu230fs) rs387906436
NM_000132.4(F8):c.6914_6918del (p.Asn2305fs) rs387906466
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.4(F8):c.6968G>A (p.Arg2323His) rs137852474
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.6977G>T (p.Arg2326Leu) rs137852360
NM_000132.4(F8):c.77T>G (p.Leu26Arg) rs137852377
NM_000132.4(F8):c.787+3A>G rs2073548872
NM_000132.4(F8):c.788-1G>C rs2073445259
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.4(F8):c.822G>A (p.Trp274Ter) rs34371500
NM_000132.4(F8):c.832G>A (p.Gly278Arg) rs137852399
NM_000132.4(F8):c.849del (p.Glu284fs) rs387906437
NM_000132.4(F8):c.854T>G (p.Val285Gly) rs137852400
NM_000132.4(F8):c.872A>G (p.Glu291Gly) rs137852359
NM_000132.4(F8):c.881C>T (p.Thr294Ile) rs137852401
NM_000132.4(F8):c.896A>T (p.Asn299Ile) rs137852402
NM_000132.4(F8):c.89A>T (p.Glu30Val) rs137852378
NM_000132.4(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.4(F8):c.902G>T (p.Arg301Leu) rs137852403
NM_000132.4(F8):c.907del (p.Ala303fs) rs387906438
NM_000132.4(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.4(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.4(F8):c.943del (p.Ala315fs) rs387906439
NM_000132.4(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.4(F8):c.985T>C (p.Cys329Arg) rs387906430
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000132.4:c.3065_3066insL13054_3065dup
NM_000132.4:c.6430_6723del
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.164_184dup (p.Thr55_Asn61dup) rs1555937071
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser) rs483352926
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) rs1602349143
NM_000166.6(GJB1):c.304_306del (p.Glu102del) rs1555937135
NM_000166.6(GJB1):c.37G>T (p.Val13Leu) rs104894820
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg) rs104894813
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.410del (p.Ile137fs) rs1602349316
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn) rs104894817
NM_000240.4(MAOA):c.133C>T (p.Arg45Trp) rs796065312
NM_000240.4(MAOA):c.749_750insT (p.Ser251fs) rs796065311
NM_000240.4(MAOA):c.797G>T (p.Cys266Phe) rs587777457
NM_000240.4(MAOA):c.886C>T (p.Gln296Ter) rs72554632
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.3(MTM1):c.605del (p.Leu202fs) rs672601325
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.3(MTM1):c.679-1G>A rs672601324
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000266.4(NDP):c.328T>G (p.Cys110Gly) rs104894876
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_000266.4(NDP):c.362G>T (p.Arg121Leu) rs137852220
NM_000266.4(NDP):c.370C>T (p.Leu124Phe) rs28933684
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.216_232del (p.Ala73fs) rs62645741
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) rs58933950
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) rs137852297
NM_000273.3(GPR143):c.756_767+2del rs281865183
NM_000273.3(GPR143):c.933_934dup (p.Gly312fs)
NM_000283.4(PDE6B):c.772C>A (p.His258Asn) rs121918582
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) rs104894922
NM_000307.5(POU3F4):c.1060del (p.Thr354fs) rs398122517
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter) rs104894920
NM_000307.5(POU3F4):c.648del (p.Leu217fs) rs1555984570
NM_000307.5(POU3F4):c.862_865del (p.Val289fs) rs730882189
NM_000307.5(POU3F4):c.896del (p.Lys299fs) rs267606974
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val) rs387906502
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp) rs104894921
NM_000307.5(POU3F4):c.950dup (p.Leu317fs) rs398122516
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly) rs104894924
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser) rs104894923
NM_000330.4(RS1):c.160_163dup (p.Thr55fs) rs281865342
NM_000330.4(RS1):c.216G>C (p.Glu72Asp) rs104894932
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.4(RS1):c.38T>C (p.Leu13Pro) rs104894935
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000330.4(RS1):c.667T>C (p.Cys223Arg) rs104894929
NM_000377.3(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.3(WAS):c.1097del (p.Gly366fs) rs587776744
NM_000377.3(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.3(WAS):c.177del (p.Gly60fs) rs2147262829
NM_000377.3(WAS):c.1A>T (p.Met1Leu) rs587776742
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.257G>T (p.Arg86Leu) rs132630268
NM_000377.3(WAS):c.389ACGAGG[3] (p.130DE[3]) rs587776743
NM_000377.3(WAS):c.559+2T>G rs1602177733
NM_000377.3(WAS):c.559+5G>A rs886039451
NM_000377.3(WAS):c.560-1G>A rs1602178087
NM_000377.3(WAS):c.723del (p.Ser242fs) rs2147264981
NM_000377.3(WAS):c.724del (p.Ser242fs) rs2147264989
NM_000377.3(WAS):c.73_74del (p.Thr25fs) rs1602176299
NM_000377.3(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.3(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000381.4(MID1):c.1311GAT[1] (p.Met438del) rs1569270035
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer) rs1569268029
NM_000381.4(MID1):c.1558dup (p.Glu520fs) rs1569268013
NM_000381.4(MID1):c.1601_1624dup (p.His541_Tyr542insLeuPheIleAspSerGlyArgHis)
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro) rs28934611
NM_000381.4(MID1):c.343G>T (p.Glu115Ter) rs104894865
NM_000381.4(MID1):c.712G>T (p.Glu238Ter) rs387906719
NM_000381.4(MID1):c.884T>C (p.Leu295Pro) rs104894866
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) rs132630263
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) rs132630265
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) rs132630264
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) rs132630267
NM_000390.4(CHM):c.1520A>G (p.His507Arg) rs397514603
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000444.4(PHEX):c.[755T>C;759G>A]
NM_000444.6(PHEX):c.119-1G>A rs2146979490
NM_000444.6(PHEX):c.119-1G>C rs2146979490
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro) rs137853270
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) rs137853269
NM_000444.6(PHEX):c.436+6T>C rs1556020485
NM_000444.6(PHEX):c.682_683del (p.Ser228fs) rs1064793956
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) rs137853268
NM_000444.6(PHEX):c.849+1268G>T rs919011936
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter) rs104894908
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter) rs104894886
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp) rs104894900
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His) rs104894899
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn) rs104894896
NM_000475.5(NR0B1):c.116G>A (p.Trp39Ter) rs1569269179
NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter) rs104894894
NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter) rs104894906
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser) rs104894897
NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile) rs28935481
NM_000475.5(NR0B1):c.1376_1377delinsG (p.Asp459fs)
NM_000475.5(NR0B1):c.155_156del (p.Glu52fs) rs2147007424
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter) rs104894892
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter) rs104894891
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter) rs104894898
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter) rs104894889
NM_000475.5(NR0B1):c.765del (p.Cys255fs)
NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter) rs104894887
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter) rs104894895
NM_000475.5(NR0B1):c.839del (p.Leu280fs)
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter) rs104894890
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys) rs28935482
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.6(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.6(ATRX):c.5273-10T>A rs2148261114
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.6(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.6(ATRX):c.751A>G (p.Lys251Glu) rs1569539477
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) rs267606927
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) rs104894914
NM_000539.3(RHO):c.269G>A (p.Gly90Asp) rs104893790
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) rs104893796
NM_000539.3(RHO):c.875C>A (p.Ala292Glu) rs104893789
NM_000843.4(GRM6):c.727dup rs281865186
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001004051.4(GPRASP2):c.1717_1718delinsAA (p.Ala573Asn) rs1569491884
NM_001004334.4(GPR179):c.1784+1G>A rs773126191
NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr) rs281875234
NM_001004334.4(GPR179):c.187del (p.Leu63fs) rs794726686
NM_001004334.4(GPR179):c.278del (p.Pro93fs) rs794726685
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001008222.3(ZDHHC9):c.286C>T (p.Arg96Trp) rs1131690786
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs) rs727503977
NM_001008537.3(NEXMIF):c.183del (p.Arg62fs) rs397518479
NM_001008537.3(NEXMIF):c.2042del (p.Gly681fs) rs1556016555
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs) rs397518478
NM_001008537.3(NEXMIF):c.438C>A (p.Cys146Ter) rs1556016802
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter) rs1556016731
NM_001011658.4(TRAPPC2):c.157_158del (p.Met53fs) rs587776750
NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs) rs587776749
NM_001011658.4(TRAPPC2):c.238+4T>C rs587776753
NM_001011658.4(TRAPPC2):c.239-11_239-9del rs587777330
NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser) rs104894948
NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs) rs587776751
NM_001011658.4(TRAPPC2):c.329C>A (p.Ser110Ter) rs104894949
NM_001011658.4(TRAPPC2):c.387del (p.Val130fs) rs587776754
NM_001011658.4(TRAPPC2):c.391C>T (p.Gln131Ter) rs122460156
NM_001011658.4(TRAPPC2):c.53_54del (p.Val17_Phe18insTer) rs587776748
NM_001011658.4(TRAPPC2):c.93+5G>A rs587776752
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr) rs132630299
NM_001015877.2(PHF6):c.139-8A>G rs771399346
NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter) rs132630301
NM_001015877.2(PHF6):c.27dup (p.Gly10fs) rs758791658
NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe) rs132630298
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_001015877.2(PHF6):c.686A>G (p.His229Arg) rs104894918
NM_001015877.2(PHF6):c.700A>G (p.Lys234Glu) rs104894917
NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly) rs104894919
NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe) rs587777489
NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys) rs121917899
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs) rs606231193
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs) rs606231193
NM_001032382.2(PQBP1):c.547_569del (p.Glu183fs) rs606231197
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter) rs137852551
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001039591.3(USP9X):c.1111C>T (p.Arg371Ter) rs869025592
NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter) rs869025588
NM_001039591.3(USP9X):c.2644_2645insA (p.Arg882fs) rs869025590
NM_001039591.3(USP9X):c.3028-2A>G rs869025589
NM_001039591.3(USP9X):c.3763C>T (p.Gln1255Ter) rs869025591
NM_001039591.3(USP9X):c.6278T>A (p.Leu2093His) rs587777317
NM_001039591.3(USP9X):c.7526del (p.Gln2509fs) rs587777318
NM_001042750.2(STAG2):c.205C>T (p.Arg69Ter) rs1569507848
NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter) rs1317614761
NM_001042750.2(STAG2):c.436C>T (p.Arg146Ter) rs2057753419
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter) rs121434616
NM_001079872.2(CUL4B):c.1660C>T (p.Arg554Cys) rs121434615
NM_001079872.2(CUL4B):c.1852+1G>T rs797044862
NM_001079872.2(CUL4B):c.847-2A>G rs786200913
NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro) rs797045018
NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr) rs797045021
NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro) rs797045020
NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe) rs797045019
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001097642.3(GJB1):c.-16-511G>C rs2147944334
NM_001097642.3(GJB1):c.-16-513T>G rs1003232768
NM_001110556.2(FLNA):c.1829-1G>C rs1603362402
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) rs267606817
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) rs1557134946
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) rs63094662
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715
NM_001111125.3(IQSEC2):c.1049C>T (p.Ala350Val)
NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys) rs267607188
NM_001111125.3(IQSEC2):c.2273G>A (p.Arg758Gln) rs267607189
NM_001111125.3(IQSEC2):c.2366C>T (p.Ala789Val) rs875989799
NM_001111125.3(IQSEC2):c.2402A>C (p.Gln801Pro) rs267607187
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) rs587777261
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001139498.2(FGF13):c.-32C>G
NM_001145073.3(USP27X):c.1026_1030del (p.Ser342fs) rs886038210
NM_001145073.3(USP27X):c.106C>T (p.Gln36Ter) rs2147224405
NM_001145073.3(USP27X):c.1141T>C (p.Tyr381His) rs886038211
NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)
NM_001145073.3(USP27X):c.1211G>A (p.Ser404Asn)
NM_001145073.3(USP27X):c.431A>G (p.Tyr144Cys)
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle) rs1603271580
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg) rs122459149
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001159699.2(FHL1):c.736+1G>A rs786200914
NM_001159699.2(FHL1):c.865dup (p.Cys289fs) rs1603273697
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu) rs122459148
NM_001159702.3(FHL1):c.838G>A (p.Val280Met) rs267606811
NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs) rs1556406033
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001167.4(XIAP):c.292del (p.Glu99fs) rs1556404534
NM_001167.4(XIAP):c.352G>T (p.Glu118Ter) rs104894764
NM_001167.4(XIAP):c.651del (p.Trp217fs) rs1556404673
NM_001167.4(XIAP):c.672dup (p.Pro225fs) rs1556404697
NM_001169122.2(AFF2):c.-460GCC[6_25] rs193922937
NM_001184880.2(PCDH19):c.1036_1040dup (p.Asn347fs) rs2147539848
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001243197.1(IQSEC2):c.123-2226_*20117dup
NM_001252024.2(TRPM1):c.1089+3_1089+6del rs772011426
NM_001252024.2(TRPM1):c.2711C>A (p.Ser904Ter) rs786205113
NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter) rs267607140
NM_001252024.2(TRPM1):c.482del (p.Gly161fs) rs1226505973
NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter) rs267607141
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp) rs122456133
NM_001256789.3(CACNA1F):c.2509G>A (p.Gly837Ser) rs863225090
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) rs122456135
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) rs122456134
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG rs863223294
NM_001256789.3(CACNA1F):c.3598-133_3709-76del rs2147900556
NM_001256789.3(CACNA1F):c.4548del (p.Phe1517fs) rs2147895629
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) rs1569507511
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu) rs80356713
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) rs80356714
NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter) rs104894739
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter) rs104894735
NM_001272071.2(AP1S2):c.180-5_180-2del rs587776738
NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter) rs137852213
NM_001272071.2(AP1S2):c.288+5G>A rs587776739
NM_001272071.2(AP1S2):c.426+1G>T rs587777542
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.1939+5G>A rs879253716
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs) rs879253715
NM_001278116.2(L1CAM):c.2432-19A>C rs879253713
NM_001278116.2(L1CAM):c.3458-1G>C rs879253724
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) rs137852518
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001318510.2(ACSL4):c.1001C>T (p.Pro334Leu) rs122458139
NM_001318510.2(ACSL4):c.1003-2A>G rs1569423317
NM_001318510.2(ACSL4):c.1585C>A (p.Arg529Ser) rs122458138
NM_001320752.2(STS):c.1007C>T (p.Ser336Leu) rs137853167
NM_001320752.2(STS):c.1099T>A (p.Trp367Arg) rs137853165
NM_001320752.2(STS):c.1100G>C (p.Trp367Ser) rs137853168
NM_001320752.2(STS):c.1241+1G>T rs1601748137
NM_001320752.2(STS):c.1316A>G (p.His439Arg) rs137853169
NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr) rs137853166
NM_001325.3(CSTF2):c.149A>C (p.Asp50Ala)
NM_001330360.2(POLA1):c.254T>G (p.Ile85Ser) rs1569271378
NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg) rs1569271892
NM_001330360.2(POLA1):c.4160C>T (p.Pro1387Leu) rs1569350993
NM_001330360.2(POLA1):c.525+1G>A rs1569277899
NM_001330574.2(ZNF711):c.1711A>T (p.Arg571Ter) rs199422240
NM_001330574.2(ZNF711):c.2192del (p.Phe731fs) rs1060505032
NM_001330574.2(ZNF711):c.2265_2266del (p.Cys755_Glu756delinsTer) rs1603009115
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr) rs1060505033
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) rs1556323334
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala) rs121918361
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter) rs397514460
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His) rs2063908570
NM_001356.5(DDX3X):c.1436_1439delinsTCTC (p.Asp479_Arg480delinsValSer) rs2063923605
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.5(DDX3X):c.1511G>A (p.Gly504Glu) rs2063927503
NM_001356.5(DDX3X):c.1520T>C (p.Ile507Thr) rs797045024
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.641_643del (p.Ile214del) rs2063876114
NM_001356.5(DDX3X):c.828_831del (p.Arg276fs) rs1602131859
NM_001356.5(DDX3X):c.873C>A (p.Tyr291Ter) rs869320681
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) rs137854492
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.1259+1G>A rs1569558616
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.16+592C>G rs1603429348
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) rs121912294
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter) rs387906705
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter) rs387906704
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro) rs1556014749
NM_001367721.1(CASK):c.704_708delATAAG (p.Lys236fs)
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001367721.1(CASK):c.915G>A (p.Lys305=) rs387906499
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg) rs886038209
NM_001368397.1(FRMPD4):c.1851del (p.Cys618fs) rs886038208
NM_001368397.1(FRMPD4):c.856C>T (p.Arg286Ter) rs1569057837
NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter) rs1574785867
NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter) rs1684878263
NM_001378477.3(NYX):c.266G>C (p.Arg89Pro) rs104894910
NM_001378477.3(NYX):c.287T>C (p.Ile96Thr) rs104894911
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del) rs281865194
NM_001378477.3(NYX):c.90C>A (p.Cys30Ter) rs62637021
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) rs132630317
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001399.5(EDA):c.183C>G (p.Tyr61Ter) rs132630318
NM_001399.5(EDA):c.187G>A (p.Glu63Lys) rs132630311
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.573_574insT (p.Gly192fs) rs1569404873
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.671G>C (p.Gly224Ala) rs132630316
NM_001399.5(EDA):c.67C>T (p.Gln23Ter) rs132630310
NM_001399.5(EDA):c.755A>T (p.His252Leu) rs879255552
NM_001399.5(EDA):c.826C>T (p.Arg276Cys) rs387907197
NM_001399.5(EDA):c.912_913dup (p.Ser305fs) rs1569406514
NM_001415.4(EIF2S3):c.1294C>T (p.Pro432Ser) rs2147131515
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs) rs886040857
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_001415.4(EIF2S3):c.665T>C (p.Ile222Thr) rs886040855
NM_001415.4(EIF2S3):c.777T>G (p.Ile259Met) rs886040856
NM_001493.3(GDI1):c.1186_1187del (p.Ser396fs) rs398122814
NM_001493.3(GDI1):c.1268G>C (p.Arg423Pro) rs121434609
NM_001493.3(GDI1):c.208C>T (p.Arg70Ter) rs121434608
NM_001493.3(GDI1):c.275T>C (p.Leu92Pro) rs121434607
NM_001551.3(IGBP1):c.-57_-55delinsAA rs2147562704
NM_001555.5(IGSF1):c.2123_2149del (p.Ala708_Lys716del) rs1556181091
NM_001555.5(IGSF1):c.2233del (p.Glu745fs) rs398122920
NM_001555.5(IGSF1):c.2268dup (p.Arg757fs) rs1603404421
NM_001555.5(IGSF1):c.2303T>C (p.Leu768Pro) rs1603404413
NM_001555.5(IGSF1):c.2573C>T (p.Ser858Phe) rs397514622
NM_001555.5(IGSF1):c.2916G>A (p.Trp972Ter) rs398122919
NM_001555.5(IGSF1):c.3581dup (p.Glu1195fs) rs398122921
NM_001830.4(CLCN4):c.1606G>A (p.Val536Met) rs1569231897
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) rs587777161
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg) rs1569233549
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser) rs1569226551
NM_001830.4(CLCN4):c.43_55del (p.Asp15fs) rs1923775114
NM_001830.4(CLCN4):c.661C>G (p.Leu221Val) rs1569230006
NM_002024.6:c.-128GGM[55_?]
NM_002063.4(GLRA2):c.1049G>T (p.Arg350Leu) rs761094724
NM_002063.4(GLRA2):c.458G>A (p.Arg153Gln) rs2147065620
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met) rs1601761445
NM_002139.4(RBMX):c.1037_1059del (p.Glu346fs)
NM_002139.4(RBMX):c.478CCT[2] (p.Pro162del)
NM_002351.5(SH2D1A):c.-10C>T rs1603236465
NM_002351.5(SH2D1A):c.137+5G>C rs587777612
NM_002351.5(SH2D1A):c.138-1G>T rs1603238847
NM_002351.5(SH2D1A):c.149_201+106del
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.5(SH2D1A):c.164G>T (p.Arg55Leu) rs111033630
NM_002351.5(SH2D1A):c.172C>T (p.Gln58Ter) rs111033628
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.5(SH2D1A):c.302C>T (p.Pro101Leu) rs111033626
NM_002351.5(SH2D1A):c.385T>A (p.Ter129Arg) rs111033625
NM_002351.5(SH2D1A):c.3G>T (p.Met1Ile) rs111033629
NM_002351.5(SH2D1A):c.95G>C (p.Arg32Thr) rs111033624
NM_002547.3(OPHN1):c.1579del (p.Ile527fs) rs1569211016
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter) rs137854493
NM_002547.3(OPHN1):c.644_645del (p.Val215fs) rs1569244467
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs) rs1569243931
NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu) rs121434613
NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter) rs121434611
NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser) rs121434614
NM_002578.5(PAK3):c.199C>T (p.Arg67Cys) rs121434612
NM_002578.5(PAK3):c.276+4A>G rs1569398769
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn) rs180177151
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr) rs180177152
NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser) rs587781261
NM_002764.4(PRPS1):c.343A>G (p.Met115Val) rs587781262
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly) rs587777150
NM_002764.4(PRPS1):c.46T>C (p.Ser16Pro) rs869025594
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr) rs180177153
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg) rs180177154
NM_002764.4(PRPS1):c.925G>T (p.Val309Phe) rs587781263
NM_003179.3(SYP):c.177_178delinsGT (p.Asn59_Lys60delinsLysTer) rs2147884161
NM_003179.3(SYP):c.274dup (p.Thr92fs) rs2147882650
NM_003179.3(SYP):c.649G>C (p.Gly217Arg) rs137852561
NM_003179.3(SYP):c.829_832del (p.Asp277fs) rs2065508863
NM_003336.4(UBE2A):c.32G>A (p.Arg11Gln) rs387906728
NM_003336.4(UBE2A):c.382C>T (p.Gln128Ter) rs104894952
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg) rs1556235551
NM_003491.4(NAA10):c.*39A>G rs1603289774
NM_003491.4(NAA10):c.*40A>G rs1342269961
NM_003491.4(NAA10):c.*43A>G rs1603289772
NM_003491.4(NAA10):c.109T>C (p.Ser37Pro) rs387906701
NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser) rs863225427
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.319G>T (p.Val107Phe) rs587780562
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003491.4(NAA10):c.384T>A (p.Phe128Leu)
NM_003491.4(NAA10):c.455_458del (p.Thr152fs) rs2148534324
NM_003491.4(NAA10):c.471+2T>A rs587776457
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg) rs199422237
NM_004187.5(KDM5C):c.202dup (p.Arg68fs) rs782600511
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter) rs199422236
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter) rs281860639
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe) rs199422234
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) rs863225431
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) rs281864468
NM_004208.4(AIFM1):c.422C>T (p.Thr141Ile) rs1603227409
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) rs863225432
NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser) rs1603224817
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu) rs137853266
NM_004463.3(FGD1):c.1392dup (p.Lys465fs)
NM_004463.3(FGD1):c.1396A>G (p.Met466Val) rs137853267
NM_004463.3(FGD1):c.1565G>A (p.Arg522His) rs137853264
NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln) rs28935497
NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter) rs387906718
NM_004463.3(FGD1):c.2192del (p.Lys731fs)
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.944dup (p.Ala316fs) rs1569541255
NM_004586.3(RPS6KA3):c.1000-2A>G rs2148664125
NM_004586.3(RPS6KA3):c.1147C>T (p.Arg383Trp) rs122454129
NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del) rs1603420690
NM_004586.3(RPS6KA3):c.1444_1959dup (p.Val482_Lys653dup)
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter) rs122454128
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs) rs1603417213
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val) rs122454124
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe) rs122454126
NM_004586.3(RPS6KA3):c.326-11A>G rs1555943503
NM_004586.3(RPS6KA3):c.326-1G>C rs587776755
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004586.3(RPS6KA3):c.343A>T (p.Thr115Ser) rs387906703
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs) rs1603426295
NM_004586.3(RPS6KA3):c.455GAG[1] (p.Gly153del) rs398122813
NM_004586.3(RPS6KA3):c.486+3A>G rs1603426293
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys) rs122454130
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala) rs122454125
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser) rs122454131
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.200G>A (p.Gly67Glu) rs397515550
NM_004595.5(SMS):c.329+5G>A rs397515381
NM_004595.5(SMS):c.395T>G (p.Val132Gly) rs267607076
NM_004595.5(SMS):c.983A>G (p.Tyr328Cys) rs397515553
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser) rs864321630
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg) rs864321628
NM_004606.5(TAF1):c.2866G>C (p.Asp956His) rs864321631
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr) rs864321627
NM_004615.4(TSPAN7):c.572_573del (p.Val191fs)
NM_004615.4(TSPAN7):c.652G>T (p.Gly218Ter) rs104894950
NM_004727.3(SLC24A1):c.1613_1614del (p.Phe538fs)
NM_004727.3(SLC24A1):c.1691_1693del (p.Phe564del) rs1555403793
NM_004727.3(SLC24A1):c.2968A>C (p.Ser990Arg) rs1555407654
NM_004727.3(SLC24A1):c.3291_3294del (p.Val1099fs) rs766780281
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005342.4(HMGB3):c.480_481dup (p.Lys161fs) rs431825172
NM_005391.5(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_005634.3(SOX3):c.712_744dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_005765.3(ATP6AP2):c.168+6T>A rs1057519331
NM_005765.3(ATP6AP2):c.301-11_301-10del rs1926795050
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=) rs121918521
NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=) rs397518480
NM_006013.5(RPL10):c.191C>T (p.Ala64Val) rs1131692042
NM_006013.5(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_006013.5(RPL10):c.481G>A (p.Gly161Ser) rs1131692041
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter) rs104894940
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro) rs122455132
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro) rs104894931
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.993del (p.Ala332fs)
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln) rs2147777346
NM_006521.6(TFE3):c.356A>C (p.Gln119Pro) rs2147777343
NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)
NM_006521.6(TFE3):c.560C>G (p.Thr187Arg) rs2064742925
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006521.6(TFE3):c.602A>C (p.Gln201Pro) rs2147776381
NM_006521.6(TFE3):c.780+1G>A rs2147776168
NM_006579.3(EBP):c.187C>T (p.Arg63Ter) rs104894799
NM_006579.3(EBP):c.238G>A (p.Glu80Lys) rs104894800
NM_006579.3(EBP):c.338+1G>T rs1569479885
NM_006579.3(EBP):c.386G>A (p.Trp129Ter) rs104894792
NM_006579.3(EBP):c.390del (p.Pro131fs) rs1569479901
NM_006579.3(EBP):c.440G>A (p.Arg147His) rs28935174
NM_006579.3(EBP):c.523C>T (p.Gln175Ter) rs104894793
NM_006579.3(EBP):c.586_587insA (p.Trp196Ter) rs1569480016
NM_006579.3(EBP):c.587G>A (p.Trp196Ter) rs104894794
NM_006579.3(EBP):c.87G>A (p.Trp29Ter) rs104894798
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) rs137852560
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter) rs757027813
NM_006950.3(SYN1):c.1266del (p.Gln423fs)
NM_006950.3(SYN1):c.1406dup (p.Pro470fs)
NM_006950.3(SYN1):c.1444C>T (p.Gln482Ter)
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) rs397514679
NM_006950.3(SYN1):c.236C>G (p.Ser79Trp) rs2057941303
NM_006950.3(SYN1):c.527+1G>T
NM_007325.5(GRIA3):c.1844C>T (p.Ala615Val) rs140908982
NM_007325.5(GRIA3):c.1888G>C (p.Gly630Arg) rs587777361
NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser) rs137852351
NM_007325.5(GRIA3):c.2117T>C (p.Met706Thr) rs137852352
NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg) rs137852350
NM_007363.5(NONO):c.1093C>T (p.Arg365Ter) rs869025345
NM_007363.5(NONO):c.1131G>A (p.Ala377=) rs869025343
NM_007363.5(NONO):c.1171G>T (p.Gly391Cys) rs1114167441
NM_007363.5(NONO):c.1394dup (p.Asn466fs) rs869025344
NM_007363.5(NONO):c.154+1GT[2]
NM_012280.4(FTSJ1):c.121+1del
NM_012280.4(FTSJ1):c.192-2A>G rs1602048728
NM_012280.4(FTSJ1):c.196C>T (p.Gln66Ter) rs1602048836
NM_012280.4(FTSJ1):c.655G>A (p.Asp219Asn)
NM_012310.5(KIF4A):c.1489-8_1490delinsATAATGAAAG rs1555949612
NM_012310.5(KIF4A):c.1616T>C (p.Leu539Pro)
NM_012310.5(KIF4A):c.1674+1G>A
NM_012310.5(KIF4A):c.1745T>A (p.Leu582His) rs1045363046
NM_012310.5(KIF4A):c.763G>A (p.Asp255Asn)
NM_014271.4(IL1RAPL1):c.1377C>A (p.Tyr459Ter) rs122461160
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) rs122461161
NM_014332.3(SMPX):c.109G>T (p.Glu37Ter) rs387906707
NM_014332.3(SMPX):c.130del (p.Glu44fs) rs398122848
NM_014332.3(SMPX):c.175G>T (p.Gly59Ter) rs387906706
NM_014332.3(SMPX):c.214G>T (p.Glu72Ter) rs387906708
NM_014332.3(SMPX):c.99del (p.Arg34fs) rs398122930
NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter) rs904072058
NM_014927.5(CNKSR2):c.453dup (p.Asp152fs) rs606231282
NM_015107.3(PHF8):c.529A>T (p.Lys177Ter) rs121918523
NM_015107.3(PHF8):c.631C>T (p.Arg211Ter) rs121918522
NM_015107.3(PHF8):c.738dup (p.His247fs)
NM_015107.3(PHF8):c.836T>C (p.Phe279Ser) rs121918524
NM_015107.3(PHF8):c.943_946+8del
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) rs122468178
NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser) rs122468179
NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile) rs122468177
NM_015884.4(MBTPS2):c.671-9T>G rs587777305
NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu) rs122468180
NM_015884.4(MBTPS2):c.680A>T (p.His227Leu) rs122468176
NM_016032.4(ZDHHC9):c.167+5G>C rs606231183
NM_016032.4(ZDHHC9):c.172_175del (p.Arg58fs) rs606231182
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016032.4(ZDHHC9):c.448C>T (p.Pro150Ser) rs137852215
NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys) rs786205133
NM_016120.4(RLIM):c.1093C>T (p.Arg365Cys) rs1569309816
NM_016120.4(RLIM):c.1159C>T (p.Arg387Cys) rs1569309776
NM_016120.4(RLIM):c.1760C>G (p.Pro587Arg) rs1569309474
NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn) rs1569309460
NM_016120.4(RLIM):c.1795C>T (p.Arg599Cys) rs1569309459
NM_016120.4(RLIM):c.1831C>T (p.Arg611Cys) rs1569309449
NM_016937.3(POLA1):c.445_507del rs1569277866
NM_019597.5(HNRNPH2):c.340C>T (p.Arg114Trp) rs782191163
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019597.5(HNRNPH2):c.626C>T (p.Pro209Leu) rs1555988417
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) rs104894912
NM_020922.5(WNK3):c.1089+1G>A
NM_020922.5(WNK3):c.611C>G (p.Pro204Arg)
NM_020922.5(WNK3):c.721C>T (p.Arg241Ter)
NM_020922.5(WNK3):c.899T>C (p.Leu300Ser)
NM_021120.4(DLG3):c.1092dup (p.Thr365fs) rs398122846
NM_021120.4(DLG3):c.1302+1G>A rs1373474125
NM_021120.4(DLG3):c.1373C>G (p.Ser458Ter) rs398122847
NM_021120.4(DLG3):c.357+1G>C rs587777359
NM_021120.4(DLG3):c.985+1G>C rs587777360
NM_021120.4(DLG3):c.985+5G>A rs2147771642
NM_022101.4(STEEP1):c.159_160insTA (p.Asp54Ter) rs1556220029
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys) rs62637027
NM_024528.4(NKAP):c.1010T>C (p.Ile337Thr) rs1603379772
NM_024528.4(NKAP):c.1082G>A (p.Arg361Gln) rs1603379318
NM_024528.4(NKAP):c.988C>T (p.Arg330Cys) rs1603379781
NM_024528.4(NKAP):c.989G>A (p.Arg330His) rs1603379780
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779
NM_030624.3(KLHL15):c.1179del (p.Tyr394fs) rs1929024034
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp) rs1057518699
NM_031206.7(LAS1L):c.806C>G (p.Ala269Gly) rs1173514495
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.12188G>A (p.Arg4063Gln) rs1569399945
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg) rs1556909287
NM_031407.7(HUWE1):c.145-2A>G rs1569509136
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His) rs121918526
NM_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg) rs2073064247
NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys) rs2124181878
NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter) rs2073068605
NM_032539.5(SLITRK2):c.628G>A (p.Glu210Lys) rs2124163845
NM_033380.2(COL4A5):c.[866G>T;4282C>T]
NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys) rs104886121
NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp) rs104886043
NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp) rs104886229
NM_033380.3(COL4A5):c.4631G>C (p.Trp1544Ser) rs104886293
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu) rs104886091
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp) rs122468182
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs) rs1603370185
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln) rs104894741
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter) rs104894740
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.1372del (p.Ala458fs) rs587783187
NM_139058.3(ARX):c.232G>T (p.Glu78Ter) rs267606666
NM_139058.3(ARX):c.424_455del (p.Ala142fs) rs2147324181
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.617del (p.Gly206fs) rs587783202
NM_139058.3(ARX):c.790del (p.Arg264fs) rs886043552
NM_139058.3(ARX):c.98T>C (p.Leu33Pro) rs28936077
NM_139058.3(ARX):c.995G>A (p.Arg332His) rs111033612
NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp) rs104893740
NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly) rs786205854
NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu) rs786205853
NM_145200.3(CABP4):c.800_801delAG rs786205249
NM_145200.5(CABP4):c.81_82insA (p.Pro28fs) rs786205852
NM_153252.5(BRWD3):c.3325+1G>T rs730882185
NM_153252.5(BRWD3):c.3413G>T (p.Trp1138Leu) rs2147693460
NM_153252.5(BRWD3):c.3976C>T (p.Arg1326Ter) rs866592729
NM_153252.5(BRWD3):c.4786A>G (p.Lys1596Glu) rs137853272
NM_153252.5(BRWD3):c.946dup (p.Arg316fs) rs730882186
NM_171998.4(RAB39B):c.215+1G>A rs587776734
NM_171998.4(RAB39B):c.21C>A (p.Tyr7Ter) rs267606995
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys) rs587777874
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg) rs864309527
NM_181332.3(NLGN4X):c.1254_1255del (p.Glu418fs) rs1569118680
NM_181672.3(OGT):c.1016A>G (p.Glu339Gly) rs1602147880
NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr) rs1602152230
NM_181672.3(OGT):c.463-6T>G rs943295842
NM_181672.3(OGT):c.762G>T (p.Leu254Phe) rs1131692155
NM_181672.3(OGT):c.775G>A (p.Ala259Thr) rs797044898
NM_181672.3(OGT):c.851G>C (p.Arg284Pro) rs1114167891
NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs) rs397509380
NM_201599.3(ZMYM3):c.1332G>A (p.Lys444=)
NM_201599.3(ZMYM3):c.3880C>T (p.Arg1294Cys) rs879255361
NM_203475.3(PORCN):c.1059_1071dup (p.Thr358fs) rs587776737
NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln) rs2061714949
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg) rs267606973
NM_203475.3(PORCN):c.222G>A (p.Trp74Ter) rs137852219
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) rs137852218
NR0B1, 1-BP INS, 430G
PHEX, A-G, NT-429
RPS6KA3, 187-BP DEL, NT406
WAS, 15,800-BP DEL

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